Treacher Collins syndrome
|Treacher Collins syndrome|
|Classification and external resources|
Treacher Collins syndrome (TCS), also known as Treacher Collins–Franceschetti syndrome, or mandibulofacial dysostosis, is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones.:577 Treacher Collins syndrome is found in about one in 50,000 births. The typical physical features include downward-slanting eyes, micrognathia (a small lower jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absent ears.
- 1 Signs and symptoms
- 2 Cause
- 3 Diagnosis
- 4 Treatment
- 5 Epidemiology
- 6 Eponym
- 7 Media portrayals
- 8 See also
- 9 References
- 10 External links
Signs and symptoms
The presentation of symptoms in people with Treacher Collins syndrome varies. Some individuals may be so mildly affected, they remain undiagnosed; others can have severe facial involvement and life-threatening airway compromise. Most of the features of TCS are bilateral and are already recognisable at birth.
Patients are mostly characterized by these abnormalities:
- Hypoplasia of the facial bones: Most described is an underdeveloped mandibular and zygomatic bone. This leads to a small and malformed jaw. Mandible hypoplasia can result in a malocclusion.
- Ear anomalies: The external ear anomalies consist of small, rotated, or even absent auricles. Also symmetric, bilateral stenosis or atresia of the external auditory canals is described. In most cases, the ossicles and the middle ear cavity were dysmorphic. Inner ear malformations are rarely described. As a result of these abnormalities, a majority of the individuals with TCS have conductive hearing loss.
- Most patients experience eye problems, varying from colobomata of the lower eyelids and aplasia of lid lashes to short, down-slanting palpebral fissures, and missing eyelashes. Vision loss can occur and is associated with strabismus, refractive errors, and anisometropia.
- Cleft palate 
- Airway problems, which are often a result of mandibular hypoplasia, can occur.
Dental anomalies are seen in 60% of TCS patients. These anomalies consist in tooth agenesis (33%), enamel disformaties (20%), and malplacement of the maxillary first molars (13%). In some cases, dental anomalies in combination with mandible hypoplasia result in a malocclusion. This can lead to problems with food intake and the ability to close the mouth.
Some features related to TCS are seen less frequently:
- Nasal deformity
- High-arched palate
- Coloboma of the upper lid 
- Ocular hypertelorism 
- Choanal atresia
- Preauricular hair displacement
Facial deformity is still associated by the general public with developmental delay, and lesser intelligence, but intelligence of patients with TCS is usually normal. The psychological and social problems associated with facial deformity may affect quality of life in a number of patients.
Mutations in TCOF1, POLR1C, or POLR1D genes can cause Treacher Collins syndrome. TCOF1 gene mutations are the most common cause of the disorder, accounting for 81 to 93% of all cases. POLR1C and POLR1D gene mutations cause an additional 2% of cases. In individuals without an identified mutation in one of these genes, the genetic cause of the condition is unknown. The proteins produced from the TCOF1, POLR1C, and POLR1D genes all appear to play important roles in the early development of bones and other tissues of the face. These proteins are involved in the production of ribosomal RNA (rRNA), which helps assemble protein building blocks (amino acids) into new proteins, which are essential for the normal functioning and survival of cells. Mutations in the TCOF1, POLR1C, or POLR1D genes reduce the production of rRNA. A decrease in the amount of rRNA may trigger the self-destruction (apoptosis) of certain cells involved in the development of facial bones and tissues. The abnormal cell death could lead to the specific problems with facial development found in Treacher Collins syndrome. However, it is unclear why the effects of a reduction in rRNA are limited to facial development.
TCOF1 is the only gene currently known to be associated with TCS, a mutation in this gene being found in 90-95% of the individuals with TCS. However, in some individuals with typical symptoms of TCS, mutations in TCOF1 have not been found. Investigation of the DNA has resulted in the identification of the kind of mutations found in TCOF1. The majority of mutations are small deletions or insertions, though splice site and missense mutations also have been identified. Mutation analysis has unveiled more than 100 disease-causing mutations in TCOF1, which are mostly family-specific mutations. The only recurrent mutation accounts for about 17% of the cases.
Function of the TCOF1 gene
TCOF1 codes for a relatively simple, nucleolar protein called treacle. Mutations in TCOF1 lead to haploinsufficiency of the treacle protein. Haploinsufficiency occurs when a diploid organism has only one functional copy of a gene, because the other copy is inactivated by a mutation. Thereby, the other functional gene does not produce enough of a gene-product to have the expected function, resulting in an abnormal disease state. Haploinsufficiency of the treacle protein leads to a depletion of the neural crest cell precursor, which leads to a reduced number of crest cells migrating to the first and second pharyngeal arches. These crest cells play an important role in the development of the craniofacial appearance. So down regulation of treacle expression results in craniofacial defects and growth retardation.
TCS is inherited in an autosomal dominant manner and the penetrance of the affected gene is almost complete. Some recent investigations, though, described some rare cases in which the penetrance in TCS was not complete. Causes may be a variable expressivity, an incomplete penetrance  or germline mosaicism. Only 40% of the mutations are inherited. The remaining 60% are a result of a de novo mutation. In the outcome of the disease, inter- and intrafamilial variability occurs. This suggests, when an affected child is born, it is important to investigate the parents to determine whether the affected gene is present. A parent could have a mild and undiagnosed TCS. In this case, the risk of having another affected child is 50%. If the parents do not have the affected gene, the recurrence risk appears to be low. In following generations, the severity of the clinical symptoms increases.
The diagnosis of Treacher Collins syndrome relies upon clinical and radiographic findings.
A set of typical symptoms occurs within Treacher Collins syndrome, which can be detected by a critical clinical view. The wide spectrum of diseases which have similar characteristics make it sometimes difficult to diagnose TCS. The OMENS classification was developed as a comprehensive and stage-based approach to differentiate the diseases. This acronym describes five distinct dysmorphic manifestations, namely orbital asymmetry, mandibular hypoplasia, auricular deformity, nerve development, and soft-tissue disease. The table below shows the OMENS classification in more detail.
- O0: normal orbital size, position
- O1: abnormal orbital size
- O2: abnormal orbital position
- O3: abnormal orbital size and position
- M0: normal mandible
- M1: small mandible and glenoid fossa with short ramus
- M2: ramus short and abnormally shaped
- 2A: glenoid fossa in anatomical acceptable position
- 2B: Temperomandibular joint inferiorly (TMJ), medially, anteriorly displaced, with severely hypoplastic condyle
- M3: Complete absence of ramus, glenoid fossa, and TMJ
- E0: normal ear
- E1: Minor hypoplasia and cupping with all structures present
- E2: Absence of external auditory cannel with variable hypoplasia of the auricle
- E3: Malposition of the lobule with absent auricle, lobular remnant usually inferior anteriorly displaced
- N0: No facial nerve involvement
- N1: Upper facial nerve involvement (temporal or zygomatic branches)
- N2: Lower facial nerve involvement (buccal, mandibular or cervical)
- N3: All branches affected
- S0: No soft tissue or muscle deficiency
- S1: Minimal tissue or muscle deficiency
- S2: Moderate tissue or muscle deficiency
- S3: Severe tissue or muscle deficiency
Radiologic manifestations can be used to confirm the diagnosis. Imaging evaluation consists of X-rays (radiographs), CT scans, MRI, and/or ultrasound.
A few techniques are used to confirm the diagnosis in TCS. An orthopantomogram (OPG) is a panoramic dental X-ray of the upper and lower jaw. It shows a two-dimensional image from ear to ear. Particularly, OPG facilitates an accurate postoperative follow-up and monitoring of bone growth under a mono- or double-distractor treatment. Thereby, some TCS features could be seen on OPG, but better techniques are used to include the whole spectrum of TCS abnormalities instead of showing only the jaw abnormalities. Another method of radiographic evaluation is taking a X-ray image of the whole head. The lateral cephalometric radiograph in TCS shows hypoplasia of the facial bones, like the malar bone, mandible, and the mastoid. Finally, occipitomental radiographs are used to detect hypoplasia or discontinuity of the zygomatic arch.
A temporal-bone CT using thin slices makes it possible to diagnose the degree of stenosis and atresia of the external auditory channel, the status of the middle ear cavity, the absent or dysplastic and rudimentary ossicles, or the inner ear abnormalities such as a deficient cochlea. Two- and three-dimensional CT reconstructions with VRT and bone and skin-surfacing are helpful for more accurate staging and the three-dimensional planning of mandibular and external ear reconstructive surgery.
Other diseases have similar characteristics to Treacher Collins syndrome. In the differential diagnosis, one should consider the acrofacial dysostoses. The facial appearance resembles that of Treacher Collins syndrome, but additional limb abnormalities occur in those patients. Examples of these diseases are Nager syndrome and Miller syndrome. The oculoauriculovertebral spectrum should also be considered in the differential diagnosis. An example is hemifacial microsomia, which primarily affects development of the ear, mouth, and mandible. This anomaly may occur bilaterally. Another disease which belongs to this spectrum is Goldenhar syndrome, which includes vertebral abnormalities, epibulbar dermoids and facial deformities.
The treatment of individuals affected by TCS needs a multidisciplinary approach and may involve the intervention of different professionals. The primary concerns in individuals with TCS are breathing and feeding problems, which are a consequence of the hypoplasia of the mandibula and the obstruction of the hypopharynx by the tongue. Sometimes, even a tracheostomy is necessary to maintain an adequate airway. Also, a gastrostomy could be necessary to assure an adequate caloric intake while protecting the airway. Surgery to restore a normal structure of the face is normally performed at defined ages, depending on the development state.
An overview of the present guidelines:
- If a cleft palate is present, the repair normally takes place at 9–12 months old. Before surgery, a polysomnography with a palatal plate in place is needed; this may predict the postoperative situation and gives insight on the chance of the presence of sleep apnea (OSAS) after the operation.
- Hearing loss is treated by bone conduction amplification, speech therapy, and educational intervention to avoid language/speech problems. The bone-anchored hearing aid is an alternative for individuals with ear anomalies
- Zygomatic and orbital reconstruction is performed when the cranio-orbitozygomatic bone is completely developed, usually at the age of 5–7 years. In children, an autologous bone graft is mostly used. In combination with this transplantation, lipofilling can be used in the periorbital area to get an optimal result of the reconstruction.
- Reconstruction of the lower eyelid coloboma includes the use of a myocutaneous flap, which is elevated and in this manner closes the eyelid defect.
- External ear reconstruction is usually done when the individual is at least eight years old. Sometimes, the external auditory canal or middle ear can also be treated.
- The optimal age for the maxillomandibular reconstruction is still a major point of discussion; at present, this classification is generally used:
- Type I (mild) and Type IIa (moderate) 13–16 years
- Type IIb (moderate to severe malformation) at skeletal maturity
- Type III (severe) 6–10 years
- When the teeth are cutting, the teeth should be under supervision of an orthodontist to make sure no abnormalities occur. If abnormalities like dislocation or an overgrowth of teeth are seen, appropriate action can be undertaken as soon as possible.
- Orthognatic treatments usually take place after the age of 16 years; at this point, all teeth are cut and the jaw and dentures are mature. Whenever OSAS is detected, the level of obstruction is determined through endoscopy of the upper airways. Mandibular advancement can be an effective way to improve both breathing and æsthetics, while a chinplasty only restores the profile.
- If a nose reconstruction is necessary, it is usually performed after the orthognatic surgery and after the age of 18 years.
- The contour of the facial soft tissues generally requires correction at a later age, because of the facial skeletal maturity. The use of microsurgical methods, like the free flap transfer, has improved the correction of facial soft tissue contours. Another technique to improve the facial soft tissue contours is lipofilling. For instance, lipofilling is used to reconstruct the eyelids.
Hearing loss in Treacher Collins syndrome is caused by deformed structures in the outer and middle ear. The hearing loss is generally bilateral with a conductive loss of about 50-70 dB. Even in cases with normal auricles and open external auditory canals, the ossicular chain is often malformed.
Attempts to surgically reconstruct the external auditory canal and improve hearing in children with TCS have not yielded positive results. Auditory rehabilitation with bone-anchored hearing aids (BAHAs) or a conventional bone conduction aid has proven preferable to surgical reconstruction.
For patients with Treacher Collins syndrome, BAHAs provide several advantages:
- As early aiding is of the utmost importance for this patient group, the BAHA facilitates normal language development.
- Pure tone audiometry (PTA) threshold improvements in the speech spectrum of >40 dB have been reported using the BAHA in pediatric users with craniofacial anomalies.
- Compared to a conventional bone conduction aid, BAHA provides better outcomes both audiologically and esthetically
- Compared to surgical reconstruction, BAHA provides more reliable outcomes and superior audiological results.
- Spontaneous improvement in the quality, pitch, and intensity of a patient’s own voice may be seen after BAHA aiding.
The syndrome occurs in one in 50,000 live births.
It is named after Edward Treacher Collins (1862–1932), the English surgeon and ophthalmologist who described its essential traits in 1900. In 1949, Adolphe Franceschetti and David Klein described the same condition on their own observations as mandibulofacial dysostosis. The term mandibulofacial dysostosis is used to describe the clinical features.
While a student at Temple University, Bob Saget directed an 11-minute documentary about his seven-year-old nephew Adam who was undergoing cranial surgery to correct his symptoms of Treacher Collins syndrome. The documentary, Through Adam's Eyes, went on to win a 1978 Student Academy Award.
Treacher Collins syndrome was featured in the 2005 Discovery Channel documentary, Unmasked: Treacher Collins Syndrome. As of 2008, it was still being shown on Discovery Health and the TLC channels.
In 2010, BBC Three documentary Love Me, Love My Face covered the case of a man, Jono Lancaster, with the condition. In 2011, BBC Three returned to Jono to cover his and his partner Laura's quest to start a family, in So What If My Baby Is Born Like Me?, which first aired as part of a BBC Three season of programmes on parenting. The first film was replayed on BBC One shortly ahead of the second film's initial BBC Three broadcast. Lancaster's third BBC Three film, Finding My Family on Facebook, which looked at adoption, aired in 2011.
A young man with TCS was one of a number of people with various face/body-altering medical conditions or injuries to take part in Katie Piper's 2011 Channel 4 television series Katie: My Beautiful Friends.
Wonder, written by R. J. Palacio and published by Knopf in February 2012, is a children's novel that features a boy with the disorder.
An episode of Grey's Anatomy, season 7 episode 12, features a character who has Treacher Collins syndrome.
- Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 894, 1686. ISBN 1-4160-2999-0.
- "'I hated seeing my face in the mirror'". BBC Online. 18 November 2010. Retrieved 18 November 2010.
- James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- Conte, Chiara; Maria Rosaria D'Apice; Fabrizio Rinaldi; Stefano Gambardella; Federica Sanguiuolo; Giuseppe Novelli (27 September 2011). "Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome". Medical Genetics 12. Retrieved 5 December 2011.
- Edwards, S J; Fowlie, A; Cust, M P; Liu, D T; Young, I D; Dixon, M J (1 July 1996). "Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.". Journal of Medical Genetics 33 (7): 603–606. doi:10.1136/jmg.33.7.603. PMC 1050672. PMID 8818950.
- Katsanis SH, et al., Treacher Collins syndrome, 2004, GeneReviews
- Posnick, Jeffrey C (1 October 1997). "Treacher Collins syndrome: Perspectives in evaluation and treatment". Journal of Oral and Maxillofacial Surgery 55 (10): 1120–1133. doi:10.1016/S0278-2391(97)90294-9.
- Trainor, Paul A; Dixon, Jill; Dixon, Michael J (24 December 2008). "Treacher Collins syndrome: etiology, pathogenesis and prevention". European Journal of Human Genetics 17 (3): 275–283. doi:10.1038/ejhg.2008.221. PMC 2986179. PMID 19107148.
- Hertle, R W; Ziylan, S; Katowitz, J A (1 October 1993). "Ophthalmic features and visual prognosis in the Treacher-Collins syndrome.". British Journal of Ophthalmology 77 (10): 642–645. doi:10.1136/bjo.77.10.642.
- Marszałek, B; Wójcicki, P; Kobus, K; Trzeciak, WH (2002). "Clinical features, treatment and genetic background of Treacher Collins syndrome.". Journal of applied genetics 43 (2): 223–33. PMID 12080178.
- Dixon, Jill; Edwards, Sara J.; Gladwin, Amanda J.; Dixon, Michael J.; Loftus, Stacie K.; Bonner, Cynthia A.; Koprivnikar, Kathryn; Wasmuth, John J. (31 January 1996). "Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome". Nature Genetics 12 (2): 130–136. doi:10.1038/ng0296-130. PMID 8563749.
- Altug Teber, Özge; Gillessen-Kaesbach, Gabriele; Fischer, Sven; Böhringer, Stefan; Albrecht, Beate; Albert, Angelika; Arslan-Kirchner, Mine; Haan, Eric; Hagedorn-Greiwe, Monika; Hammans, Christof; Henn, Wolfram; Hinkel, Georg Klaus; König, Rainer; Kunstmann, Erdmute; Kunze, Jürgen; Neumann, Luitgard M; Prott, Eva-Christina; Rauch, Anita; Rott, Hans-Dieter; Seidel, Heide; Spranger, Stephanie; Sprengel, Martin; Zoll, Barbara; Lohmann, Dietmar R; Wieczorek, Dagmar (1 September 2004). "Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation". European Journal of Human Genetics 12 (11): 879–890. doi:10.1038/sj.ejhg.5201260. PMID 15340364.
- Dixon, J; Trainor, P; Dixon, MJ (1 May 2007). "Treacher Collins syndrome". Orthodontics & Craniofacial Research 10 (2): 88–95. doi:10.1111/j.1601-6343.2007.00388.x. PMID 17552945.
- Masotti, Cibele; Ornelas, Camila C; Splendore-Gordonos, Alessandra; Moura, Ricardo; Félix, Têmis M; Alonso, Nivaldo; Camargo, Anamaria A; Passos-Bueno, Maria (1 January 2009). "Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients". BMC Medical Genetics 10 (1): 136. doi:10.1186/1471-2350-10-136. PMC 2801500. PMID 20003452.
- Sakai, Daisuke; Trainor, Paul A. (31 May 2009). "Treacher Collins syndrome: Unmasking the role of Tcof1/treacle". The International Journal of Biochemistry & Cell Biology 41 (6): 1229–1232. doi:10.1016/j.biocel.2008.10.026. PMC 3093759. PMID 19027870.
- Splendore, Alessandra; Fanganiello, Roberto D.; Masotti, Cibele; Morganti, Lucas S.C.; Rita Passos-Bueno, M. (1 May 2005). "TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature". Human Mutation 25 (5): 429–434. doi:10.1002/humu.20159. PMID 15832313.
- Isaac, C; Marsh, KL; Paznekas, WA; Dixon, J; Dixon, MJ; Jabs, EW; Meier, UT (September 2000). "Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome.". Molecular Biology of the Cell 11 (9): 3061–71. doi:10.1091/mbc.11.9.3061. PMC 14975. PMID 10982400.
- Gorlin RJ, Syndromes of the Head and Neck, 2001, Oxford University Press, 4th edition
- Dixon, MJ; Marres, HA; Edwards, SJ; Dixon, J; Cremers, CW (April 1994). "Treacher Collins syndrome: correlation between clinical and genetic linkage studies.". Clinical dysmorphology 3 (2): 96–103. doi:10.1097/00019605-199404000-00002. PMID 8055143.
- Dixon, Jill; Ellis, Ian; Bottani, Armand; Temple, Karen; Dixon, Michael James (15 June 2004). "Identification of mutations in TCOF1: Use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome". American Journal of Medical Genetics 127A (3): 244–248. doi:10.1002/ajmg.a.30010. PMID 15150774.
- Shoo, Brenda A.; McPherson, Elizabeth; Jabs, Ethylin Wang (1 April 2004). "Mosaicism of aTCOF1 mutation in an individual clinically unaffected with treacher collins syndrome". American Journal of Medical Genetics 126A (1): 84–88. doi:10.1002/ajmg.a.20488. PMID 15039977.
- Splendore, Alessandra; Jabs, Ethylin Wang; Félix, Têmis Maria; Passos-Bueno, Maria Rita (31 August 2003). "Parental origin of mutations in sporadic cases of Treacher Collins syndrome". European Journal of Human Genetics 11 (9): 718–722. doi:10.1038/sj.ejhg.5201029. PMID 12939661.
- Senggen, E; Laswed, T; Meuwly, JY; Maestre, LA; Jaques, B; Meuli, R; Gudinchet, F (May 2011). "First and second branchial arch syndromes: multimodality approach.". Pediatric radiology 41 (5): 549–61. doi:10.1007/s00247-010-1831-3. PMID 20924574.
- Vento AR, et al., The O.M.E.N.S classification of hemifacial microsomia, 1991, Cleft Palate Craniofac, J 28,p. 68-76
- Posnick JC, et al., Treacher Collins syndrome: current evaluation, treatment, and future directions, 2000, Cleft Palate Craniofac J., 55, p. 1120-1133
- Dixon, MJ (1995). "Treacher Collins syndrome". Journal of Medical Genetics 32 (10): 806–8. doi:10.1136/jmg.32.10.806. PMC 1051706. PMID 8558560.
- Goel L, et al., Treacher Collins syndrome-a challenge for anaesthesiologists, 2009, Indian J Anaesth, 53, p. 642-645
- Evans, Adele Karen; Rahbar, Reza; Rogers, Gary F.; Mulliken, John B.; Volk, Mark S. (31 May 2006). "Robin sequence: A retrospective review of 115 patients". International Journal of Pediatric Otorhinolaryngology 70 (6): 973–980. doi:10.1016/j.ijporl.2005.10.016. PMID 16443284.
- Rose, Edmund; Staats, Richard; Thissen, Ulrike; Otten, Jörg-Eland; Schmelzeisen, Rainer; Jonas, Irmtrud (1 August 2002). "Sleep-Related Obstructive Disordered Breathing in Cleft Palate Patients after Palatoplasty". Plastic and Reconstructive Surgery 110 (2): 392–396. doi:10.1097/00006534-200208000-00002.
- Bannink, Natalja; Mathijssen, Irene M.J.; Joosten, Koen F.M. (1 September 2010). "Use of Ambulatory Polysomnography in Children With Syndromic Craniosynostosis". Journal of Craniofacial Surgery 21 (5): 1365–1368. doi:10.1097/SCS.0b013e3181ec69a5. PMID 20856022.
- Marres, HA (2002). "Hearing loss in the Treacher-Collins syndrome.". Advances in oto-rhino-laryngology 61: 209–15. doi:10.1159/000066811. PMID 12408086.
- Zhang, Zhiyong; Niu, Feng; Tang, Xiaojun; Yu, Bing; Liu, Jianfeng; Gui, Lai (1 September 2009). "Staged Reconstruction for Adult Complete Treacher Collins Syndrome". Journal of Craniofacial Surgery 20 (5): 1433–1438. doi:10.1097/SCS.0b013e3181af21f9. PMID 19816274.
- Saadeh, Pierre B.; Chang, Christopher C.; Warren, Stephen M.; Reavey, Patrick; McCarthy, Joseph G.; Siebert, John W. (1 June 2008). "Microsurgical Correction of Facial Contour Deformities in Patients with Craniofacial Malformations: A 15-Year Experience". Plastic and Reconstructive Surgery 121 (6): 368e–378e. doi:10.1097/PRS.0b013e3181707194. PMID 18520863.
- Argenta, Louis C.; Iacobucci, John J. (30 June 1989). "Treacher Collins Syndrome: Present concepts of the disorder and their surgical correction". World Journal of Surgery 13 (4): 401–409. doi:10.1007/BF01660753. PMID 2773500.
- Marres, HA; Cremers, CW; Marres, EH (1995). "Treacher-Collins syndrome. Management of major and minor anomalies of the ear.". Revue de laryngologie - otologie - rhinologie 116 (2): 105–8. PMID 7569369.
- Verhagen, C.V.M.; Hol, M.K.S.; Coppens-Schellekens, W.; Snik, A.F.M.; Cremers, C.W.R.J. (1 October 2008). "The Baha Softband". International Journal of Pediatric Otorhinolaryngology 72 (10): 1455–1459. doi:10.1016/j.ijporl.2008.06.009. PMID 18667244.
- Nicholson, Nannette; Christensen, Lisa; Dornhoffer, John; Martin, Patti; Smith-Olinde, Laura (1 January 2011). "Verification of Speech Spectrum Audibility for Pediatric Baha Softband Users With Craniofacial Anomalies". The Cleft Palate-Craniofacial Journal 48 (1): 56–65. doi:10.1597/08-178. PMID 20180710.
- Granström, G; Tjellström, A (April 1997). "The bone-anchored hearing aid (BAHA) in children with auricular malformations.". Ear, nose, & throat journal 76 (4): 238–40, 242, 244–7. PMID 9127523.
- Thomas, J (1996). "Speech and voice rehabilitation in selected patients fitted with a bone anchored hearing aid (BAHA).". The Journal of laryngology and otology. Supplement 21: 47–51. PMID 9015449.
- Treacher Collin E, Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones, 1900, Trans Ophthalmol Soc UK, 20, p. 190-192
- Franceschetti A, Klein D, Mandibulo-facial dysostosis: new hereditary syndrome, 1949, Acta Ophtalmol, 27, p. 143-224
- "Surgical Teamwork Gives Disease Victims a New Life", Donald G. McNeil, Jr., July 26, 1977, page L31.
- Nip/Tuck: Blu Mondae - TV.com
- First Coast News: Local Family Has Daughter Born Without a Face
- BBC programme page for Love Me, Love My Face
- BBC programme page for So What If My Baby...
- BBC Three Bringing Up Britain season
- BBC Programmes: 'Finding My Family on Facebook'
- Information about Microtia Ear Reconstruction for Treacher Collins Syndrome
- All About Treacher Collins Syndrome
- a Personal View of Treacher Collins Syndrome
- a Map to help TCS People find each other
- GeneReview/NCBI/NIH/UW entry on Treacher Collins Syndrome
- http://www.friendlyfaces.org/ is a resource for, and network of, individuals with facial differences, parents, families, friends, and health care professionals